Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169047549..169049487-chr1:169051305..169052919,2	MCF-7	breast:
2	chr1:169052379..169055015-chr1:169073046..169075938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction
ENSG00000237707	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1040506	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1200089	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1200092	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1200097	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200099	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1200105	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1200106	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1200108	0.91[EUR][1000 genomes]
rs1200114	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1200115	0.86[AMR][1000 genomes]
rs1200122	0.84[AMR][1000 genomes]
rs1200125	0.86[AMR][1000 genomes]
rs1200128	0.86[AMR][1000 genomes]
rs1320974	0.84[EUR][1000 genomes]
rs1575041	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1575042	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2982459	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2982461	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3007364	0.84[EUR][1000 genomes]
rs3007369	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3007370	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656175	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs932393	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169043200-169056000	Weak transcription	Stomach Mucosa	stomach
2	chr1:169047800-169054800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:169050800-169055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:169051000-169055200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:169051000-169055200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:169051200-169054800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:169051200-169054800	Weak transcription	Fetal Heart	heart
8	chr1:169051200-169055200	Weak transcription	Right Atrium	heart
9	chr1:169051200-169055200	Weak transcription	Right Ventricle	heart
10	chr1:169051200-169055800	Weak transcription	Ovary	ovary
11	chr1:169051200-169055800	Weak transcription	Pancreas	Pancrea
12	chr1:169051200-169055800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:169051200-169056000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:169051200-169056000	Weak transcription	Aorta	Aorta

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